DDX41

Probable ATP-dependent RNA helicase DDX41 is an enzyme that in humans is encoded by the DDX41 gene.

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.

Function
DDX41 is believed to take part in several cell functions. It is mainly concentrated in the nucleus of the cell, but it can also be expressed in the cytoplasm. In the cytoplasm it takes part in the Interferon I production pathway by recognizing foreign cytoplasmic DNA and signaling STING. It has been observed that hypomorphic DDX41 mutations impair the immune system response to viral and bacterial infections. In the nucleus, DDX41 is believed to regulate the transcriptional elongation process signaling Pol II to slow down the elongation while the splicing process is taking place. Under-expression and inhibition of DDX41 have been shown to lead to the formation of an R-loop which results in transcriptional errors with no specific patterns. DDX41 is also believed to take part in the ribosome biogenesis process, given its implications in the processing of snoRNA.

It has been shown that DDX41 germ-line mutations are associated with myelodysplastic syndrome and acute myeloid leukemia.